{"id":"W2514717871","doi":"10.1212/wnl.86.16_supplement.i14.001","title":"Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (I14.001)","year":2016,"lang":"en","type":"article","venue":"Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; Child and Family Research Institute; B.C. Women's Hospital & Health Centre; BC Children's Hospital; University of British Columbia","funders":"","keywords":"Epilepsy; Exome sequencing; Medicine; Yield (engineering); Pediatrics; Biology; Genetics; Mutation; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001096266,0.0004515946,0.0003268182,0.0004423719,0.0002356322,0.0005552772,0.0002320952,0.0003767726,0.000852741],"category_scores_gemma":[0.004325641,0.000149018,0.0002596262,0.0003101983,0.0002770104,0.0002567877,0.0004530954,0.0002971409,0.0002120062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003300668,"about_ca_system_score_gemma":0.0002602544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008325204,"about_ca_topic_score_gemma":0.001477808,"domain_scores_codex":[0.9995104,0.0001157382,0.00007251363,0.0001350108,0.0001003625,0.00006589521],"domain_scores_gemma":[0.9981042,0.00089404,0.0005265026,0.00009291683,0.0002422204,0.0001400872],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008242186,0.00006098928,0.951247,0.00005142075,0.0000525623,0.005239585,0.00009932247,0.0004677841,0.01022507,0.00004400339,0.0003380732,0.03135001],"study_design_scores_gemma":[0.00007330775,0.0008265957,0.9517922,0.00006140556,0.0002021085,0.03318055,0.0001966269,0.00152357,0.01068311,0.0001757659,0.001264567,0.00002017357],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975802,0.0006802129,0.0004678478,0.0001423005,0.000006438683,0.000009269282,0.0002152782,0.00001670094,0.0008818402],"genre_scores_gemma":[0.9983633,0.0002166765,0.0009598967,0.00005041694,0.00001136775,0.00000410849,0.0002719314,0.000007569775,0.0001146768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001096266,"threshold_uncertainty_score":0.005797684,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.011450517921761,"score_gpt":0.2350660238602487,"score_spread":0.2236155059384877,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}